There are a number of manifestations of the syndrome and they can be variable. The children usually present with slow motor development with delayed milestones. They may also show symptoms of increased intracranial pressure due to hydrocephalus, and these include irritability, vomiting and convulsions. They also present with macrocrania.

The bulk of clinical signs will be noted in the central nervous system with significant signs of cerebellar dysfunction, such as ataxia and nystagmus. Other symptoms such as bradypnea may be present.

The other signs and symptoms are variable, depending on the extent of other malformations in the organ systems such as cardiac symptoms [8].

• Developmental Delay

  DWS should be suspected in patients with waddling gait, hypotonia and developmental delays. [austinpublishinggroup.com]

  Around 50 per cent of those children affected will develop developmental delay (see entry Global developmental Delay). [contact.org.uk]

  Abstract Key features of Joubert syndrome include developmental delay, hypotonia, hyperpnea and apnea, oculomotor apraxia, and the presence of the molar tooth sign on axial imaging through the brainstem isthmus--the junction of the pons and mesencephalon [ncbi.nlm.nih.gov]

  […] defect of the brain estimated to occur in one case per every 2,500 to 5,000 live births; however, this is likely a significant underestimate because of difficulties diagnosing the syndrome; and,WHEREAS, patients with Dandy-Walker Syndrome present with developmental [michigan.gov]

• Surgical Procedure

  A surgical procedure called a shunt may be required to drain off excess fluid within the brain, which will reduce pressure inside the skull and improve symptoms. [ninds.nih.gov]

  A surgical procedure which is called a shunt may be needed to drain off the extra fluid from the brain. This will help is lessening the intracranial pressure and prevent swelling. [onlymyhealth.com]

  Treatment team A neurosurgeon would perform any surgical procedures (such as shunts) needed to help relieve hydrocephalus or intracranial cysts. [encyclopedia.com]

• Epilepsy

  Associated conditions and learning differences include: Sensory issues Dyscalculia Epilepsy Congenital heart conditions Autism Craniosynostosis Hydrocephalus Low muscle tone ‘Mirroring’ (motor control, both hands replicate each other’s movements) Visual [thebraincharity.org.uk]

  During World War II he was in charge of a post-traumatic epilepsy unit at Cushing General Hospital, Framingham, Massachusetts. In 1946 he became professor of neurosurgery at the Johns Hopkins Hospital Baltimore. [whonamedit.com]

  Presentation A 20-year-old man with Dandy-Walker syndrome, cerebral palsy, epilepsy, and congenital hydrocephalus with ventriculoperitoneal (VP) shunt presents with 4 months of progressive abdominal distention and 1 day of lower-extremity swelling. [pedsinreview.aappublications.org]

  "Advances in Genetics of Juvenile Myoclonic Epilepsies". Epilepsy Curr. 7 (3): 61–7. doi:10.1111/j.1535-7511.2007.00171.x. PMC 1874323. PMID 17520076. ^ Khanna, H.; Davis, E. E.; Murga-Zamalloa, C. A.; et al. (2009). [en.wikipedia.org]

  Medical problems with increased risk of SS included spina bifida or meningomyelocele, Dandy Walker syndrome, brain tumor, cerebral palsy, epilepsy, impaired vision, mental retardation, and pulmonary disorders [29]. [wikigenes.org]

• Crying

  5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. [ncbi.nlm.nih.gov]

  Symptoms and Signs Neurologic findings depend on whether intracranial pressure is increased, symptoms of which in infants include irritability, high-pitched cry, vomiting, lethargy, strabismus, and bulging fontanelle. [msdmanuals.com]

  Treatment for the Dandy–Walker cyst is only then indicated if the child develops symptoms (difficulty in swallowing, aspiration, a weak cry, underdeveloped sucking reflex). The usual management is placement of a cystoperitoneal shunt. 37. [slideshare.net]

  Neurologic examination revealed normal conscious level, weak cry, baby normal facial symmetry, no tongue deviation or fasciculations, cranial nerves II, III, IV, VI, IX, XI were difficult to assess. [fortunejournals.com]

• Pediatric Disease

  Type of Study: Research | Subject: Pediatric Disease [rjms.iums.ac.ir]

• Vomiting

  In older children, symptoms of increased intracranial pressure such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. [urmc.rochester.edu]

  The major clinical symptoms of the disease are hydrocephalus, weakening of physical strenth and athletic abilities, macrocephaly, cerebellar disorders like ataxia, nystagmus and irritability, vomiting from IICP. [e-rvs.org]

  However, symptoms and signs of increased intracranial cerebral pressure in terms of frequent vomiting and tense anterior fontanel developed, and these were associated with mild hypotonia and poor neck support, and upward-gaze palsy at the age of 6 months [ncbi.nlm.nih.gov]

  In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur [ninds.nih.gov]

• Nausea

  Elevated ICP: Symptoms associated with intracranial hypertension are frequent and include headaches, lethargy, nausea/vomiting, and papilledema. Seizures: Up to 15% of patients have a history of seizures. [ispn.guide]

  Our case had recurrent nausea, vomiting, headache and seizure. [dovepress.com]

  Symptoms Symptoms can include headache, varying degrees of lethargy, with or without nausea, and vomiting. The symptoms may be intermittent. Over drainage is associated with positional headaches that are often relieved when lying down. [uclahealth.org]

  Symptoms Those who are unfortunate to acquire Dandy Walker syndrome is believed to be characterized by the following symptoms: Depleted motor development in infants Hydrocephalus Increased irritability Nausea and vomiting Convulsions Lack of muscle coordination [syndrome.org]

  The present case had hyperterolism and high arch palate in accordance with a previous case.[ 5 ] Moreover, she was very drowsy and exhibited irritability, nausea sensation in accordance with the previous reports.[ 4 ] Paladini and Volpe[ 9 ] in 2006 demonstrated [ncbi.nlm.nih.gov]

• Hearing Impairment

  Dandy-Walker Syndrome Variant presents itself as a milder form of Dandy-Walker Syndrome, with less pronounced vermis hypoplasia, and hearing impairment is among its characteristics. [scielo.br]

  These symptoms may include: Developmental delays in motor and language skills such as sitting up, walking, and talking Poor muscle tone, balance, and coordination Problems with eye movement, mainly jerky eye movement Vision and hearing impairment Seizures [childrensnational.org]

  Case report: two cases of hearing impairment due to intracranial hypotension. Auris Nasus Larynx. 2009;36(3):345-348. https://doi.org/10.1016/j.anl.2008.05.016 Kastanioudakis I, Ziavra N, Politi EN, Exarchakos G, Drosos AA, Skevas A. [mediasphera.ru]

• Muscle Hypotonia

  The affected person may suffer from psychomotor retardation, ataxia, apnea attacks, muscle weakness, occasional muscle spasm, seizures, nystagmus, and macrocephaly.1,2 However, half of the cases have normal intelligence.1 The etiology of DWS is less understood [dovepress.com]

• Seizure

  […] disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long [orpha.net]

  In infants, symptoms can include irritability, seizures, vomiting, abnormal breathing, nystagmus (jerky eye movements), and slow motor development. [encyclopedia.com]

  After 6-month follow-up, patient is seizure free with anti-epileptics with almost normal development. [asianjns.org]

  A young boy presented with mental retardation and seizures with extensive hairy naevi. After a fluctuating clinical course over the next 2 years, he worsened rapidly with signs of rising intracranial pressure. [ncbi.nlm.nih.gov]

• Irritability

  In older children, symptoms of increased intracranial pressure such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. [urmc.rochester.edu]

  The major clinical symptoms of the disease are hydrocephalus, weakening of physical strenth and athletic abilities, macrocephaly, cerebellar disorders like ataxia, nystagmus and irritability, vomiting from IICP. [e-rvs.org]

  In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur [ninds.nih.gov]

• Ataxia

  MalaCards based summary: Dandy-Walker Syndrome, also known as dandy-walker malformation, is related to corpus callosum, agenesis of and hydrocephalus, and has symptoms including cerebellar ataxia and ataxia, truncal. [malacards.org]

  The major clinical symptoms of the disease are hydrocephalus, weakening of physical strenth and athletic abilities, macrocephaly, cerebellar disorders like ataxia, nystagmus and irritability, vomiting from IICP. [e-rvs.org]

  Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. [hon.ch]

  He remained well for a further three years until developing the more classical adult presenting features of cognitive impairment, disordered gait and ataxia. [ncbi.nlm.nih.gov]

  Early Onset [T370693] Early Onset Cerebellar Ataxia [T370694] Cerebellar Ataxia, Late Onset [T370695] Late Onset Cerebellar Ataxia [T370696] Cerebellar Degenerations, Primary [T370697] Corticostriatal-Spinal Degeneration [T370698] Marie Cerebellar Ataxia [medvik.cz]

• Convulsions

  In older children, symptoms of increased intracranial pressure such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. [urmc.rochester.edu]

  We report the case of a full-term female, with no pathological familial history or parental consanguinity, with a prenatal diagnosis of Dandy-Walker type malformation, who presented convulsions, coloboma of the optic nerve, thoracic vertebral block with [neurologia.com]

  Symptoms may include: Impaired development of normal speech and language Slow motor development Irritability Vomiting Convulsions Unsteadiness Lack of muscle coordination Jerky eye movements Increased head circumference Bulging of the back of the skull [connectability.ca]

  In older children, symptoms of increased intracranial pressure such as irritability, vomiting, and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. [en.wikipedia.org]

• Headache

  The authors present a case in which the patient developed headaches and focal cranial nerve deficits following infection caused by a cystoperitoneal shunt. Magnetic resonance imaging showed tethering of the brainstem. [ncbi.nlm.nih.gov]

  Mohammed V Military Teaching Hospital, Rabat, Morocco & Corresponding author Hatim Belfquih, Department of Neurosurgery, Mohammed V Military Teaching Hospital, Rabat, Morocco Image in medicine This 34 years old man presented with moderate and persistent headache [panafrican-med-journal.com]

Central nervous system structures should be evaluated in all basic obstetric ultrasounds. If there are any noted malformations then neurosonography should be performed by medical professionals with expertise in this area.

Laboratory diagnosis

Genetic testing is done for the known genes if a genetic component is suspect, due to higher recurrence rates in siblings. Beyond this there routine investigations are indicated and dependent on the other malformations noted.

Imaging

Ultrasonography during pregnancy is the best available option, but if there is uncertainty then magnetic resonance imaging may provide additional information that may influence subsequent decisions concerning the pregnancy. For the children who have the suspected malformations, magnetic resonance imaging is the gold standard in making the diagnosis. CT scans are not advised due to the radiation. Other modalities such as echocardiography may be used to assess the associated cardiac anomalies [9].

• Posterior Fossa Cysts

  Treatment When treatment is necessary, the posterior fossa cyst needs to be shunted to allow proper flow of cerebrospinal fluid. [neurosurgery.ucla.edu]

  The Dandy-Walker syndrome (DWS) can be accurately diagnosed in utero by sonographic demonstration of characteristic morphologic changes of the fetus, which includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. [ncbi.nlm.nih.gov]

The treatment is mostly supportive with surgical interventions being used to reduce the hydrocephalus. Other supportive care includes occupational and physical therapy and special education. Certain malformations may require corrective surgery such as cardiac or maxillofacial malformations.

Prognosis is dependent on the severity of the malformations that are present and the associated malformations such as cardiac defects. Individuals with more significant malformations having worse prognosis and outcomes.

The malformations in Dandy-Walker syndrome are due to defects in early embryonic development of the cerebellum and its surrounding structures. The characteristic triad includes complete or near complete agenesis of the cerebellar vermis, cystic dilatation of the fourth ventricle and an enlarged posterior fossa with displacement of the above tentorium and torcular herophili upwards. There are many possible causes of the Dandy-Walker syndrome, but it has been noted that chromosomal aneuploidy and various exposures such as rubella and alcohol during early pregnancy (this is thought to account for most of the cases) are common etiologic factors. There are also a fee gene deletions associated with the syndrome, such a chromosome 3q2 deletions, the location of the ZIC1 and ZIC4 genes [4] [5].

Dandy-Walker syndrome is rare with estimates ranging from 1 in 25,000 to 1 in 30,000 newborns. It is more predominant in female babies. Recurrence in siblings may be high when there is a genetic component like a single gene aberration, but the recurrence maybe associated with persistence of environmental factors. It accounts for approximately 1 to 4% of the cases of hydrocephalus [6].

The vermis completes its formation at about 13 to 14 postmenstrual weeks (or as late as the 16th week). Insults to the development of varying degree are believed to contribute to the genesis of the malformation. There have been a number of theories, but dysembryogenesis of the hindbrain is thought to be the insisting event that leads to the arrest in the formation the hindbrain, with lack in the fusion or the cerebellar hemispheres [7].

Timely obstetric ultrasounds and genetic testing for suspect inherited cause should be conducted to make decisions about the management of the pregnancy. Genetic counselling is needed for those families found to have the genetic aberrations. Avoidance of identified environmental causes such as alcohol is necessary. Vaccination against rubella to all females in their child bearing years is recommended [10].

The Dandy-Walker syndrome is a rare central nervous system congenital malformation that primarily affect the fourth ventricle (cystic dilatation) and cerebellar vermis, with enlargement of the posterior fossa. The Dandy-Walker syndrome may include malformations of the genital-urinary system, cardiac system and face and polydactyly [3].

Definition: Dandy-Walker syndrome is a condition that causes abnormal brain development, during the early parts of pregnancy. It primarily affects the part of the brain that coordinates movement, the cerebellum. There may be other malformations in the heart, face and digits.

Cause: It may be caused by genetic problems, but this account for a few cases. Most of the cases are thought to be caused by environmental toxins and some infections. These factors include alcohol ingestion during pregnancy. Infections such as rubella in the first trimester are thought to be a cause as well.

Symptoms: The major symptoms are due to increased pressure in the head due to fluid accumulation. This can be evident by a large head, irritability, vomiting, and slow mental development and coordination. Other symptoms such as a staggering gate may be noted. Hyperactivity may also be evident.

Diagnosis: The diagnosis can be made on a routine obstetric ultrasound but more specialized doctors should be the ones doing the scans if the malformation is suspected in previous scans. In young children magnetic resonance imaging of the brain is the best modality. Genetic tests may be also done to look for the genes that cause this syndrome, because if present there is an increased risk of following pregnancies having the malformations.

Treatment: Treatment includes reliving pressure in the brain by placing a tube in the brain and diverting the fluid. The rest of the treatment is supportive and includes occupational and physical therapy. The children may require special schools to assist with their learning difficulties. Genetic counselling may be required in families found to have a gene problem causing Dandy-Walker syndrome.

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2. Russ PD, Pretorius DH, Johnson MJ. Dandy-Walker syndrome: a review of fifteen cases evaluated by prenatal sonography. Am J Obstet Gynecol 1989; 161:401.
3. Hirsch JF, Pierre-Kahn A, Renier D, et al. The Dandy-Walker malformation. A review of 40 cases. J Neurosurg 1984; 61:515.
4. Bromley B, Nadel AS, Pauker S, et al. Closure of the cerebellar vermis: evaluation with second trimester US. Radiology 1994; 193:761.
5. Phillips JJ, Mahony BS, Siebert JR, et al. Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology. Obstet Gynecol 2006; 107:685.
6. Osenbach RK, Menezes AH. Diagnosis and management of the Dandy-Walker malformation: 30 years of experience. Pediatr Neurosurg 1992; 18:179.
7. Bromley B, Nadel AS, Pauker S, et al. Closure of the cerebellar vermis: evaluation with second trimester US. Radiology 1994; 193:761.
8. Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003 Aug;19 (7-8):484-9. Epub 2003 Jul 16.
9. Fileni A, Colosimo C Jr, Mirk P, et al. Dandy-Walker syndrome: diagnosis in utero by means of ultrasound and CT correlations. Neuroradiology 1983; 24:233.
10. Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct;36(10):1053-5.